NANS-mediated synthesis of sialic acid is required for brain and skeletal development
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
About this item
Full title
Author / Creator
van Karnebeek, Clara D M , Bonafé, Luisa , Wen, Xiao-Yan , Tarailo-Graovac, Maja , Balzano, Sara , Royer-Bertrand, Beryl , Ashikov, Angel , Garavelli, Livia , Mammi, Isabella , Turolla, Licia , Breen, Catherine , Donnai, Dian , Cormier-Daire, Valérie , Heron, Delphine , Nishimura, Gen , Uchikawa, Shinichi , Campos-Xavier, Belinda , Rossi, Antonio , Hennet, Thierry , Brand-Arzamendi, Koroboshka , Rozmus, Jacob , Harshman, Keith , Stevenson, Brian J , Girardi, Enrico , Superti-Furga, Giulio , Dewan, Tammie , Collingridge, Alissa , Halparin, Jessie , Ross, Colin J , Van Allen, Margot I , Rossi, Andrea , Engelke, Udo F , Kluijtmans, Leo A J , van der Heeft, Ed , Renkema, Herma , de Brouwer, Arjan , Huijben, Karin , Zijlstra, Fokje , Heise, Torben , Boltje, Thomas , Wasserman, Wyeth W , Rivolta, Carlo , Unger, Sheila , Lefeber, Dirk J , Wevers, Ron A and Superti-Furga, Andrea
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Andrea Superti-Furga, Ron Wevers, Clara van Karnebeek, Luisa Bonafé and colleagues identify mutations in
NANS
, which encodes the sialic acid synthase, in nine individuals with severe infantile-onset developmental delay and skeletal dysplasia. They describe abnormal metabolites accumulating because of deficient NANS enzyme activity and show t...
Alternative Titles
Full title
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Authors, Artists and Contributors
Author / Creator
Bonafé, Luisa
Wen, Xiao-Yan
Tarailo-Graovac, Maja
Balzano, Sara
Royer-Bertrand, Beryl
Ashikov, Angel
Garavelli, Livia
Mammi, Isabella
Turolla, Licia
Breen, Catherine
Donnai, Dian
Cormier-Daire, Valérie
Heron, Delphine
Nishimura, Gen
Uchikawa, Shinichi
Campos-Xavier, Belinda
Rossi, Antonio
Hennet, Thierry
Brand-Arzamendi, Koroboshka
Rozmus, Jacob
Harshman, Keith
Stevenson, Brian J
Girardi, Enrico
Superti-Furga, Giulio
Dewan, Tammie
Collingridge, Alissa
Halparin, Jessie
Ross, Colin J
Van Allen, Margot I
Rossi, Andrea
Engelke, Udo F
Kluijtmans, Leo A J
van der Heeft, Ed
Renkema, Herma
de Brouwer, Arjan
Huijben, Karin
Zijlstra, Fokje
Heise, Torben
Boltje, Thomas
Wasserman, Wyeth W
Rivolta, Carlo
Unger, Sheila
Lefeber, Dirk J
Wevers, Ron A
Superti-Furga, Andrea
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1800401043
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1800401043
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3578
